Linked Data
ClinVar Variation Id:
2452092
ClinVar RCV Id:
RCV003172186
dbSNP Id:
rs1669778118
gnomAD v3:
2-29220738-T-C
gnomAD v4:
2-29220738-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220738T>C , CM000664.2:g.29220738T>C | GRCh38 |
| NC_000002.11:g.29443604T>C , CM000664.1:g.29443604T>C | GRCh37 |
| NC_000002.10:g.29297108T>C | NCBI36 |
| NG_009445.1:g.705829A>G , LRG_488:g.705829A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3613A>G MANE Select | ENSP00000373700.3:p.Lys1205Glu | |
| ENST00000431873.6:c.840A>G | ||
| ENST00000638605.1:n.490A>G | ||
| ENST00000642122.1:c.409A>G | ENSP00000493203.1:p.Lys137Glu | |
| ENST00000389048.7:c.3613A>G | ENSP00000373700.3:p.Lys1205Glu | |
| ENST00000431873.5:c.493A>G | ENSP00000414027.2:p.Lys165Glu | |
| ENST00000618119.4:c.2482A>G | ENSP00000482733.1:p.Lys828Glu | |
| NM_004304.4:c.3613A>G | NP_004295.2:p.Lys1205Glu | |
| NM_001353765.1:c.409A>G | NP_001340694.1:p.Lys137Glu | |
| XM_024452778.1:c.766A>G | XP_024308546.1:p.Lys256Glu | |
| XM_024452779.1:c.409A>G | XP_024308547.1:p.Lys137Glu | |
| NM_004304.5:c.3613A>G MANE Select | NP_004295.2:p.Lys1205Glu | |
| NM_001353765.2:c.409A>G | NP_001340694.1:p.Lys137Glu |